Canonical Allele Identifier: CA395954759

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385372T>G (hg19) ; chr16:g.56351460T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351460T>G , CM000678.2:g.56351460T>G	GRCh38
NC_000016.9:g.56385372T>G , CM000678.1:g.56385372T>G	GRCh37
NC_000016.8:g.54942873T>G	NCBI36
NG_042800.1:g.165122T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.800T>G MANE Select	ENSP00000262493.6:p.Leu267Arg
ENST00000562316.6:c.467T>G	ENSP00000457238.2:p.Leu156Arg
ENST00000564727.2:c.104T>G	ENSP00000454971.2:p.Leu35Arg
ENST00000568375.2:c.116-3406T>G
ENST00000638185.1:n.1015T>G
ENST00000638210.1:n.1100T>G
ENST00000638705.1:c.800T>G	ENSP00000491223.1:p.Leu267Arg
ENST00000638836.1:n.710T>G
ENST00000639055.1:n.1521T>G
ENST00000639251.1:n.701T>G
ENST00000639268.1:c.435T>G
ENST00000639341.1:c.325T>G
ENST00000639770.1:c.838T>G	ENSP00000491999.1:n.838T>G
ENST00000640390.1:n.730T>G
ENST00000640469.1:c.164T>G	ENSP00000491875.1:p.Leu55Arg
ENST00000640560.1:n.576T>G
ENST00000640893.1:c.*198T>G	ENSP00000492677.1:n.*198T>G
ENST00000262493.10:c.800T>G	ENSP00000262493.6:p.Leu267Arg
ENST00000564727.1:c.20T>G	ENSP00000454971.1:p.Leu7Arg
ENST00000568375.1:n.116-3406T>G
NM_020988.2:c.800T>G	NP_066268.1:p.Leu267Arg
XM_011523003.1:c.674T>G	XP_011521305.1:p.Leu225Arg
XM_011523003.3:c.674T>G	XP_011521305.1:p.Leu225Arg
NM_020988.3:c.800T>G MANE Select	NP_066268.1:p.Leu267Arg